Alzheimer Disease & Frontotemporal Dementia Mutation Database

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PSEN1 Leu153Val Mutation Details

(Table Legend)

Gene

PSEN1

Name

g.25660C>G (relative to Met1 in AF109907.1)
g.42214C>G (relative to nt1 in NG_007386.2)

Alias

Leu153Val

Description

Point mutation in coding region predicting an amino acid substitution

Codon Change

From CTG to GTG

dbSNP ID

rs63751441

Details

Genomic

cDNA

Protein

Observed

g.25660C>G

Predicted

c.457C>G

p.L153V

Region

EX5

CDS

TM-II

Phenotype

Alzheimer Disease
Mean of Mean Onset Ages: 35.3y
Mean of Mean Ages at Death: 44.0y

Frequency

4 Families

Function

No Functional data available

Citations

Raux G, Human Mutation 16: 95, 2000
Janssen JC, Archives of Neurology 58: 953-958, 2001
Janssen JC, Neurobiology of Aging 23 (1S): S311, 2002
Janssen JC, Neurology 60: 235-239, 2003
Raux G, Journal of Medical Genetics 42: 793-795, 2005

Citation Details

Added: July 19, 2000
Last Modified: January 17, 2005

ID: 91



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